UniProt functional annotation for Q7Z699



	UniProt functional annotation for Q7Z699

UniProt code: Q7Z699.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Tyrosine kinase substrate that inhibits growth-factor- mediated activation of MAP kinase (By similarity). Negatively regulates hematopoiesis of bone marrow (By similarity). Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differentiation, probably by inhibiting FGF-mediated phosphorylation of ERK1/2 (By similarity). Attenuates actin stress fiber formation via inhibition of TESK1-mediated phosphorylation of cofilin (PubMed:18216281). Inhibits TGFB-induced epithelial-to-mesenchymal transition in lens epithelial cells (By similarity). {ECO:0000250|UniProtKB:Q924S8, ECO:0000269|PubMed:18216281}.

Subunit: Homodimer and heterodimer (PubMed:15683364). Able to interact with SPRED2 to form heterodimers (PubMed:15683364). Interacts (via C- terminus) with TAOK1/MARKK (via C-terminus); the interaction does not affect TAOK1 kinase activity (PubMed:18216281). Interacts (via C- terminus) with TESK1 (via C-terminus); the interaction inhibits TESK1 kinase activity (PubMed:18216281). Interacts with CAV1 (PubMed:16115197). Interacts with RAS (By similarity). Interacts with palmitoyltransferase ZDHHC17/HIP14; the interaction leads to palmitoylation of SPRED1 (PubMed:24705354). {ECO:0000250|UniProtKB:Q924S8, ECO:0000269|PubMed:15683364, ECO:0000269|PubMed:16115197, ECO:0000269|PubMed:18216281, ECO:0000269|PubMed:24705354}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:16115197}; Peripheral membrane protein {ECO:0000269|PubMed:16115197}. Membrane, caveola {ECO:0000269|PubMed:16115197}; Peripheral membrane protein {ECO:0000269|PubMed:16115197}. Nucleus {ECO:0000269|PubMed:16115197}. Note=Localized in cholesterol-rich membrane raft/caveola fractions.

Tissue specificity: Weakly expressed in embryonic cell line HEK293. {ECO:0000269|PubMed:15580519}.

Ptm: Palmitoylated by ZDHHC17/HIP14. {ECO:0000250|UniProtKB:Q924S8}.

Ptm: Phosphorylated on tyrosine. {ECO:0000269|PubMed:17094949}.

Ptm: Ubiquitinated. {ECO:0000269|PubMed:17094949}.

Disease: Legius syndrome (LGSS) [MIM:611431]: An autosomal dominant syndrome characterized mainly by cafe-au-lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1, axillary freckling, and macrocephaly. Additional clinical manifestations include Noonan-like facial dysmorphism, lipomas, learning disabilities, and features of attention-deficit hyperactivity disorder. {ECO:0000269|PubMed:17704776, ECO:0000269|PubMed:19443465, ECO:0000269|PubMed:20108422, ECO:0000269|PubMed:21089071}. Note=The disease is caused by variants affecting the gene represented in this entry.

Sequence caution: Sequence=AAH18015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Tyrosine kinase substrate that inhibits growth-factor- mediated activation of MAP kinase (By similarity). Negatively regulates hematopoiesis of bone marrow (By similarity). Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differentiation, probably by inhibiting FGF-mediated phosphorylation of ERK1/2 (By similarity). Attenuates actin stress fiber formation via inhibition of TESK1-mediated phosphorylation of cofilin (PubMed:18216281). Inhibits TGFB-induced epithelial-to-mesenchymal transition in lens epithelial cells (By similarity). {ECO:0000250\|UniProtKB:Q924S8, ECO:0000269\|PubMed:18216281}.


Subunit:		Homodimer and heterodimer (PubMed:15683364). Able to interact with SPRED2 to form heterodimers (PubMed:15683364). Interacts (via C- terminus) with TAOK1/MARKK (via C-terminus); the interaction does not affect TAOK1 kinase activity (PubMed:18216281). Interacts (via C- terminus) with TESK1 (via C-terminus); the interaction inhibits TESK1 kinase activity (PubMed:18216281). Interacts with CAV1 (PubMed:16115197). Interacts with RAS (By similarity). Interacts with palmitoyltransferase ZDHHC17/HIP14; the interaction leads to palmitoylation of SPRED1 (PubMed:24705354). {ECO:0000250\|UniProtKB:Q924S8, ECO:0000269\|PubMed:15683364, ECO:0000269\|PubMed:16115197, ECO:0000269\|PubMed:18216281, ECO:0000269\|PubMed:24705354}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:16115197}; Peripheral membrane protein {ECO:0000269\|PubMed:16115197}. Membrane, caveola {ECO:0000269\|PubMed:16115197}; Peripheral membrane protein {ECO:0000269\|PubMed:16115197}. Nucleus {ECO:0000269\|PubMed:16115197}. Note=Localized in cholesterol-rich membrane raft/caveola fractions.
Tissue specificity:		Weakly expressed in embryonic cell line HEK293. {ECO:0000269\|PubMed:15580519}.
Ptm:		Palmitoylated by ZDHHC17/HIP14. {ECO:0000250\|UniProtKB:Q924S8}.
Ptm:		Phosphorylated on tyrosine. {ECO:0000269\|PubMed:17094949}.
Ptm:		Ubiquitinated. {ECO:0000269\|PubMed:17094949}.
Disease:		Legius syndrome (LGSS) [MIM:611431]: An autosomal dominant syndrome characterized mainly by cafe-au-lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1, axillary freckling, and macrocephaly. Additional clinical manifestations include Noonan-like facial dysmorphism, lipomas, learning disabilities, and features of attention-deficit hyperactivity disorder. {ECO:0000269\|PubMed:17704776, ECO:0000269\|PubMed:19443465, ECO:0000269\|PubMed:20108422, ECO:0000269\|PubMed:21089071}. Note=The disease is caused by variants affecting the gene represented in this entry.
Sequence caution:		Sequence=AAH18015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};